Linked Data
gnomAD v4:
5-138946930-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138946930C>A , CM000667.2:g.138946930C>A | GRCh38 |
| NC_000005.9:g.138282619C>A , CM000667.1:g.138282619C>A | GRCh37 |
| NC_000005.8:g.138310518C>A | NCBI36 |
| NG_008112.1:g.256447G>T | |
| NG_008112.2:g.256447G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.*187G>T MANE Select | ENSP00000378294.2:n.*187G>T | |
| ENST00000265195.9:c.*187G>T | ENSP00000265195.5:n.*187G>T | |
| ENST00000394817.6:c.*187G>T | ENSP00000378294.2:n.*187G>T | |
| NM_001037633.1:c.*187G>T | NP_001032722.1:n.*187G>T | |
| NM_022464.4:c.*187G>T | NP_071909.1:n.*187G>T | |
| XM_011543570.2:c.*187G>T | XP_011541872.1:n.*187G>T | |
| XM_024446164.1:c.*187G>T | XP_024301932.1:n.*187G>T | |
| NM_022464.5:c.*187G>T MANE Select | NP_071909.1:n.*187G>T | |
| NM_001037633.2:c.*187G>T | NP_001032722.1:n.*187G>T |